PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0239154
Disease: High pitched cry
High pitched cry 		phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.100 None 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype Pathologic Function 41 6 0.100 None 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		phenotype Finding 8 0.100 None 0
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease Nervous System Diseases Disease or Syndrome 12 16 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0 1
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		phenotype Finding 2 1 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		phenotype Finding 7 2 0.100 None 0
CUI: C4025095
Disease: Hypoargininemia
Hypoargininemia 		phenotype Finding 4 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		phenotype Finding 19 0.100 None 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0